• These patients were previously thought to have a form of Turner syndrome , with which Noonan syndrome shares numerous clinical features. (medscape.com)
  • The observation that patients with Noonan syndrome have normal karyotypes was important in allowing the distinction to be made between the Turner and Noonan syndromes. (medscape.com)
  • Oral lymphangiomas can be seen in association with Turner syndrome, Noonan syndrome, various trisomies, fetal hydrops, and fetal alcohol syndrome. (medscape.com)
  • The risk of hypertension is increased three -fold in patients with Turner syndrome . (englishlib.org)
  • Owing to the range of intellectual disability exhibited across behavioural phenotypes, it is important to assess cognitive functioning at an early stage, particularly when the level of intellectual disability may be borderline, as in the case of Sotos and Turner syndromes, so that educational intervention can be tailored to meet the individual's needs and maximize the individual's potential (Barnard et al. (herts.ac.uk)
  • The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. (wikipedia.org)
  • Although differential diagnosis between these two syndromes could be difficult, particularly in the first age of life, we underline the relevance in discriminating these two disorders in terms of affected signaling pathway to allow an effective targeted pharmacological treatment. (biomedcentral.com)
  • Based on this consideration, the absence of lentigines during infancy should not be used to exclude a diagnosis of NSML. (biomedcentral.com)
  • C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)
  • [1] Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH). (physio-pedia.com)
  • THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests. (kipdf.com)
  • THE BAKER'S DOZEN: Genetic Syndromes with Developmental Disabilities General Resources for Genetic Syndrome Diagnosis and Management:  www.genetests.org Gene Reviews  Cassidy SB and Allanson JE. (kipdf.com)
  • A genetic diagnosis of Angelman syndrome will be life changing for many families. (fdna.health)
  • Receiving an accurate diagnosis is an important first step in order to make sure that the lifelong management of the syndrome ensures the best care for the individual diagnosed. (fdna.health)
  • This rare disease is also often accompanied by an autism spectrum disorder diagnosis for some individuals diagnosed with the syndrome. (fdna.health)
  • Noonan syndrome (NS) is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. (wikipedia.org)
  • Cutaneous and skeletal manifestations of the 13 year old patient with Myhre syndrome we describe in this report. (biomedcentral.com)
  • Noonan syndrome (NS) is a genetic condition with multiple associated characteristics including short stature, congenital heart disease, distinctive facial features, skeletal anomalies, and developmental delays. (sagepub.com)
  • Skin signs and symptoms in Noonan syndrome include lymphedema (lymph swelling of the extremities), keloid formation, excessive scar formation, hyperkeratosis (overdevelopment of outer skin layer), pigmented nevi (darkly pigmented skin spots), and connective tissue disease. (wikipedia.org)
  • Treatment is focused on the symptoms of Noonan syndrome and may include cardiac therapy, growth hormone therapy, physical and speech therapy, ophthalmologic treatment, management of bleeding disorders, treatment of lymphatic problems, and urologic therapy (in males). (medscape.com)
  • The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome . (medlineplus.gov)
  • The altered signaling interferes with the development of many organs and tissues, leading to the signs and symptoms of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Some people with the signs and symptoms of cardiofaciocutaneous syndrome do not have an identified variant in the BRAF , MAP2K1 , MAP2K2 , or KRAS gene. (medlineplus.gov)
  • Common symptoms of the problem are weakness after infancy phase, decrease in muscle tones, motor control loss, reduction in muscles relaxation and reduction in muscles bulk. (epainassist.com)
  • It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. (diseasesdic.com)
  • Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. (diseasesdic.com)
  • There is no cure for Down syndrome, but some specific symptoms and problems caused by the syndrome can be treated. (merckmanuals.com)
  • The main symptoms of the syndrome include developmental delay, sleep disturbances , and seizures . (fdna.health)
  • Autistic-like symptoms are very common with this syndrome and include, language delay specifically, gross motor delay, a hypersensitivity to sounds and other sensory impairments, as well as issues with food and eating related to pickiness. (fdna.health)
  • Several additional genes associated with a Noonan syndrome-like phenotype in fewer than ten individuals have been identified. (nih.gov)
  • Several other genes that have been linked to a Noonan syndrome-like phenotype have been recognized as well but have been found in a very small number of persons. (medscape.com)
  • These findings contribute to the understanding of the CTNNB1 syndrome highlighting the oral motor phenotype, and correlating specific gene variants with clinical characteristics. (bvsalud.org)
  • Down syndrome refers to the phenotype or the pattern of physical traits, while trisomy 21 represents the genotype, i.e., the underlying chromosomal basis of the condition. (medicalhomeportal.org)
  • Prader-Willi Syndrome Genetics  Genotype-Phenotype correlations o Type I deletions: more compulsions, poorer adaptive skills, lower IQ and lower academic achievement  75% microdeletion paternal chromosome 15q11.2-q13. (kipdf.com)
  • A small percentage (3-4%) of Down syndrome results from an unbalanced translocation between chromosome 21 and another chromosome (usually 13, 14, or 15). (medicalhomeportal.org)
  • [ Bull: 2022 ] A smaller percentage of individuals with Down syndrome have trisomy 21 mosaicism from postzygotic nondisjunction during mitosis of the fertilized egg or from postzygotic loss of a chromosome 21 from a trisomic zygote. (medicalhomeportal.org)
  • Down syndrome is a chromosome disorder caused by an extra chromosome 21 that results in intellectual disability and physical abnormalities. (merckmanuals.com)
  • Down syndrome is caused by an extra chromosome 21. (merckmanuals.com)
  • About 3% of people with Down syndrome have 46 chromosomes, but the extra chromosome 21 is incorrectly joined with another chromosome (called translocation), creating an abnormal, but not extra, chromosome. (merckmanuals.com)
  • The clinical spectrum of NS may differ slightly between causative genes, and some forms have been described as ''Noonan like'' (NS-like disorder with juvenile myelomonocytic leukemia and NS-like disorder with loose anagen hair). (orpha.net)
  • In this manuscript, the authors described the mutation spectrum causally linked to Noonan syndrome (NS) (MIM PS163950) and clinically related disorders, and the associated clinical outcome, based on a pediatric cohort of 47 affected subjects. (biomedcentral.com)
  • A thorough perinatal history, 3 birth defects have a high risk of death in the generations family pedigree and clinical ex- perinatal period and infancy [ 5 ]. (who.int)
  • Asthma is a clinical syndrome characterized by episodic reversible airway obstruction, increased bronchial reactivity, and airway inflammation. (medscape.com)
  • A study by Cessans et al comparing growth patterns in patients with Noonan syndrome based on genotype found that at birth, patients with PTPN11 mutations tended to be shorter and thinner than were those with mutations in SOS1 , KRAS , or Noonan syndrome with multiple lentigines-associated PTPN11 (NSML- PTPN11 ). (medscape.com)
  • Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features including widely spaced eyes and ptosis. (nih.gov)
  • Different mechanisms of disease have been demonstrated to be associated with the two classes of PTPN11 mutations underlying Noonan syndrome and Noonan syndrome with multiple lentigines (also known as LEOPARD syndrome). (biomedcentral.com)
  • Consistent with their distinctive consequences on SHP2 function and signal transduction, these mutations do not cause NS but underlie Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome (MIM PS151100), a disorder similar but distinct from NS. (biomedcentral.com)
  • It should be noted that the presence of cutaneous manifestations as café-au-lait spots and multiple lentigines, which represent a distinctive feature of NSML, develop with age and do not generally occur in infancy. (biomedcentral.com)
  • Noonan syndrome is the second most common syndromic cause of congenital heart disease. (wikipedia.org)
  • Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. (nih.gov)
  • Noonan syndrome was first recognized as a unique entity in 1963, when Noonan and Ehmke described a series of patients with unusual facies and multiple malformations, including congenital heart disease. (medscape.com)
  • The primary source of morbidity and mortality in patients with Noonan syndrome depends on the presence and type of congenital heart disease. (medscape.com)
  • Other congenital anomalies (e.g., heart and gastrointestinal defects) and acquired conditions (e.g., hypothyroidism, hearing impairment, and celiac disease) occur more frequently in children with Down syndrome. (medicalhomeportal.org)
  • People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. (medicalhomeportal.org)
  • A specialist in congenital heart disease, Robert W. Elder, MD, treats patients from infancy through adulthood. (yalemedicine.org)
  • 90% have developmental disability  20% have autism  Communication disorder o Delayed speech o Severe hypernasality leads to poor articulation and atypical pattern of language development o May appear apraxic or dyspraxic  Increased psychiatric disorders o Bipolar, schizophrenia, mood disorders DDX  Cayler Cardiofacial Syndrome (asymmetric crying facies +conotruncal cardiac malformation): also 22q11.2 deletion  CHARGE Syndrome also features congenital heart disease, immunodeficiency, hypocalcemia, and hearing loss. (kipdf.com)
  • It ranks third place among child development disorders in front of congenital malformations and Down's syndrome 21 . (bvsalud.org)
  • The Division of Pediatric Endocrinology at The Herman & Walter Samuelson Children's Hospital at Sinai provides comprehensive diagnostic and therapeutic services for a range of endocrine disorders-including diabetes-to patients from infancy through young adulthood. (lifebridgehealth.org)
  • A number of genetic mutations can result in Noonan syndrome. (wikipedia.org)
  • The pathophysiology of Noonan syndrome is not fully understood but is associated with mutations in genes that are part of the RAS/RAF/MEK/ERK signal transduction pathway, an important regulator of cell growth. (medscape.com)
  • like Noonan syndrome, all of these cancers are associated with RAS signaling pathway mutations. (medscape.com)
  • Cardiofaciocutaneous syndrome can be caused by variants (also known as mutations) in several genes. (medlineplus.gov)
  • Costello syndrome is caused by changes (mutations) in the HRAS gene. (diseasesdic.com)
  • Some somatic mutations in the HRAS gene predispose individuals with Costello syndrome to an increased risk of neoplasms, with a 15% lifetime risk of developing malignant tumors. (diseasesdic.com)
  • Mutations in the HRAS gene cause Costello syndrome. (diseasesdic.com)
  • Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). (diseasesdic.com)
  • These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. (diseasesdic.com)
  • Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. (biomedcentral.com)
  • A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP . (nature.com)
  • NS belongs to a family of genetic syndromes known as "RASopathies," which refers to the fact that all these conditions are caused by mutations in a common cellular signaling pathway (known as the RAS-MAPK signaling pathway). (sagepub.com)
  • In nearly all patients with Apert syndrome, the cause is 1 of 2 FGFR2 mutations involving amino acids (Ser252Trp, Pro253Arg). (medscape.com)
  • Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. (nih.gov)
  • Barth syndrome presents in infancy or childhood with cardiomyopathy, hypotonia, growth delays, and cyclic neutropenia. (uky.edu)
  • Beginning in early childhood, people with Costello Syndrome additionally have an increased risk to develop certain cancerous and noncancerous tumors. (diseasesdic.com)
  • Changes in childhood survival have impacted the age distribution of people with Down syndrome, with more individuals living into their fourth, fifth, and sixth decades. (medicalhomeportal.org)
  • AP-4-associated hereditary spastic paraplegia (HSP), also known as AP-4 deficiency syndrome, is a group of neurodegenerative disorders characterized by a progressive, complex spastic paraplegia with onset typically in infancy or early childhood. (nih.gov)
  • it first appears during infancy or childhood, and generally follows a steady course without remission 44 . (bvsalud.org)
  • Fragile X Syndrome Genetics  PCR/Southern blot: No. of trinucleotide CGG repeats FMR1 gene o Normal: 5-44 Intermediate "gray zone": 45-54 o Premutation carrier: 55-200 Full mutation: >200  Genetic Anticipation: Maternal premutation carrier transmits unstable FMR1 allele to offspring. (kipdf.com)
  • These will attempt to identify the gene mutation, in the UB3A gene, which is responsible for causing the syndrome. (fdna.health)
  • to identify a mutation in the maternal copy of the gene, as this can cause a very rare type of Angelman syndrome. (fdna.health)
  • This rare disease is caused by a mutation in the TCF4 gene, and generally the syndrome is not inherited but occurs spontaneously. (fdna.health)
  • The condition was named after American pediatric cardiologist Jacqueline Noonan, who described her first case in 1963. (wikipedia.org)
  • [2] The condition was first described in 1883 and was named after American pediatric cardiologist Jacqueline Noonan, who described further cases in 1963. (handwiki.org)
  • The birth prevalence of Noonan syndrome (NS) is estimated between 1:1000 to 1:2500. (orpha.net)
  • The prevalence of Down syndrome varies by age (due to the combined impact of increasing life span and selective terminations decreasing birth prevalence) and country (because of dramatic differences in availability of prenatal testing and termination and population attitudes). (medicalhomeportal.org)
  • The graph (left) is based on the National Down Syndrome Cytogenetic Register and shows pooled prevalence (per 10,000 live births) of Down syndrome by maternal age. (medicalhomeportal.org)
  • [ Mai: 2013 ] Prevalence would have been higher but for Down syndrome-related elective pregnancy terminations. (medicalhomeportal.org)
  • The estimated birth prevalence of Down syndrome among live births in the United States in 2010 was 1:826. (medicalhomeportal.org)
  • 2001). In spite of the prevalence of autistic-like behaviours in many syndromes, autism is typically associated with a few conditions only, notably tuberous sclerosis. (herts.ac.uk)
  • Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. (nih.gov)
  • Infants with cardiofaciocutaneous syndrome typically have weak muscle tone (hypotonia), feeding difficulties, and a failure to grow and gain weight at the normal rate (failure to thrive). (medlineplus.gov)
  • We found that shoulder and knee pain is typically referred during infancy, while knee pain is generally referred around 5-6 years of age. (bvsalud.org)
  • With his Down's syndrome he'll just look like the others. (englishlib.org)
  • While Down's syndrome is the most common cause of intellectual disability, fragile-X syndrome is the most common inherited cause of learning disability (see Sabaratnam, 2003). (herts.ac.uk)
  • A study by Forte et al found that in both Crouzon and Apert syndrome, the bony orbit is shortened, orbital and orbital soft-tissue volumes are reduced, and the globe's volume is increased. (medscape.com)
  • Noonan syndrome is a genetic disorder that prevents normal development of various parts of the body. (medscape.com)
  • Down syndrome, also known as trisomy 21, is the most common genetic disorder causing intellectual disability and the most frequently occurring human chromosomal syndrome. (medicalhomeportal.org)
  • The video displays children with William's Syndrome and the common facial characteristics distinct to the genetic disorder. (physio-pedia.com)
  • Abnormalities in the limbs and extremities may occur in Noonan syndrome. (wikipedia.org)
  • Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al. (beds.ac.uk)
  • The category even includes mitochondrial abnormalities, like MERRF, MELAS, diseases in respiratory system or chain, defects in fatty acid oxidation, mitochondrial myopathies and Barth or Pompe syndromes. (epainassist.com)
  • Malformation syndromes characterize various major and minor physical abnormalities with distinctive type of facial features. (epainassist.com)
  • The purpose of this case report is to encourage physicians to include Barth syndrome in the differential for cardiomyopathy of uncertain etiology in males, especially in the presence of growth delays, hypotonia, neutropenia, and/or family history of pediatric male death of unknown etiology. (uky.edu)
  • Noonan syndrome is a common type of malformation syndrome case takes place with pediatric type of cardiomyopathy. (epainassist.com)
  • Pediatric endocrinologists in the alliance understand how to best treat hormone disorders in all ages of children, from infancy to adolescence. (toplinemd.com)
  • Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. (beds.ac.uk)
  • Heart defects occur in most people with cardiofaciocutaneous syndrome. (medlineplus.gov)
  • 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). (nih.gov)
  • Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. (herts.ac.uk)
  • Anxiety and depression are frequently cited in the behavioural phenotypes of a number of syndromes (see Figure 2 ). (herts.ac.uk)
  • Background: Smith-Magenis syndrome (SMS) is caused by either interstitial deletions in the 17p11.2 region or pathogenic variants in the RAI1 gene and is marked by a distinct set of physical, developmental, neurological, and behavioral features. (bvsalud.org)
  • The above two pictures are from the following souce: Kaplan P, Wang P, Francke U. Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. (physio-pedia.com)
  • 1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. (findzebra.com)
  • Although the underlying origin of these behaviours can sometimes be linked to a biological mechanism, such as a deficiency in the enzyme hypoxanthineguanine phosphoribosyl transferase (HPRT) in Lesch-Nyhan syndrome, in most conditions the pathway from gene to behaviour is less clear. (herts.ac.uk)
  • Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome. (medlineplus.gov)
  • Costello Syndrome is a rare condition that affects many different parts of the body. (diseasesdic.com)
  • In 1971, Dr. Jack Costello, a pediatrician in New Zealand, identified two non-related individuals as having a cluster of characteristics that might be a new syndrome. (diseasesdic.com)
  • Costello syndrome is a complex, multisystem condition, and it can lead to various complications. (diseasesdic.com)
  • Barth syndrome, an X-linked mitochondrial cardioskeletal myopathy, was diagnosed by genetic testing at autopsy. (uky.edu)
  • Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
  • Intellectual Disability Intellectual disability is significantly below average intellectual functioning present from birth or early infancy, causing limitations in the ability to conduct normal activities of daily. (msdmanuals.com)
  • Sotos Syndrome (Cerebral Gigantism): Overgrowth syndrome with features of macrocephaly, prominent forehead, prominent chin/mandible, coordination dysfunction, and usually intellectual disability and difficult behavior. (kipdf.com)
  • 2002). The course of the syndrome, both behaviourally and medically, is not stagnant, and the presentation of the syndrome can vary according to level of intellectual disability and input received, and can change with increasing age. (herts.ac.uk)
  • In a number of syndromes, such as Cornelia de Lange, milder phenotypic expression is associated with less severe intellectual disability. (herts.ac.uk)
  • for example, females with fragile-X syndrome have milder phenotypic expression and less severe intellectual disability. (herts.ac.uk)
  • Figure 1 shows the typical level of intellectual disability for a range of genetic syndromes. (herts.ac.uk)
  • Hematologic malignancies occurred most frequently, while 2 malignancies not previously observed in Noonan syndrome were found: a malignant mastocytosis and malignant epithelioid angiosarcoma. (medscape.com)
  • BACKGROUND: Cornelia de Lange syndrome is a rare genetic disease with otolaryngological involvement. (bvsalud.org)
  • Head-banging is often associated with dental pain or upper respiratory tract infections causing sinusitis or otitis (Clarke, 2002) or gastrointestinal reflux, as commonly occurs in Cornelia de Lange syndrome. (herts.ac.uk)
  • Danielle has treated children with a variety of disabilities including Autism spectrum disorder, Cerebral Palsy, Down syndrome, Fragile X syndrome, Hashimoto's disease, Hemiplegia, Sensory Processing disorders and visual processing difficulties. (bigleapsct.com)
  • Individuals with the syndrome have different brain pathologies and mapping than those diagnosed with autism spectrum disorder, but some of their behaviors are the same. (fdna.health)
  • Other features of the syndrome include developmental delay, intellectual impairment, and low muscle tone in infancy. (fdna.health)
  • Other musculoskeletal manifestations in Noonan syndrome are associated with undifferentiated connective-tissue disorders which can be associated with joint contractures (tightness) or joint hypermobility (looseness). (wikipedia.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the eyebrow slant and left-side eyelid dropping. (handwiki.org)
  • Abnormal features of Noonan syndrome at the age of 3 months: Note the low-set, posteriorly rotated, and abnormally formed ear. (handwiki.org)
  • The syndrome is characterized by abnormal adhesion-dependent functions, especially defective tissue emigration of neutrophils, leading to recurrent infection. (lookformedical.com)
  • Characteristic facial features are often more obvious in infancy : high broad forehead, hypertelorism, palpebral ptosis and downward slanting palpebral fissures, low-set, thick, posteriorly rotated ears, deep philtrum, micrognathia, curly hair and a short neck with sometimes a pterygium colli. (orpha.net)
  • The facial characteristics are most prominent in infancy, becoming less apparent with age in many people with Noonan syndrome. (wikipedia.org)
  • Cardiofaciocutaneous syndrome is also characterized by distinctive facial features. (medlineplus.gov)
  • Children with Down syndrome have delayed physical and mental development, specific head and facial features, and are often short. (merckmanuals.com)
  • In syndromes in which there are differences in physical appearance, such as short stature/accelerated growth, facial dysmorphism or delayed sexual development, affected individuals can suffer from low self-esteem and this can often precipitate secondary behavioural difficulties. (herts.ac.uk)
  • Typical histories include annoying and repetitive surface bleeding, feeding difficulties in infancy, paroxysms of lesion expansion (usually in association with upper respiratory tract infections), intralesional hemorrhage, macroglossia, or repeated infections. (medscape.com)
  • This is due to the fact that the syndrome is a microdeletion syndrome, and the gene change that causes it, is random and spontaneous. (fdna.health)
  • Some of the characteristic features of Noonan syndrome include a large head with excess skin on the back of the neck, low hairline at the nape of the neck, high hairline at the front of the head, triangular face shape, broad forehead, and a short, webbed neck. (wikipedia.org)
  • Objectives  Recognize features of common genetic syndromes associated with developmental disabilities. (kipdf.com)
  • Other identifying features of the syndrome include a high palate , long face, low muscle tone, and flat feet. (fdna.health)
  • [1] J.C.P. Williams observed in four patients an association between supravalvular aortic stenosis and the common physical and mental characteristics of this patient population and stated that it "may constitute a previously unrecognized syndrome" [1] . (physio-pedia.com)
  • Individuals with the syndrome experience a regression in their development, including their emotional, physical and cognitive development, as they grow older. (fdna.health)